Associated Papers
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.
Veltra D et al.
Children (basel, Switzerland), 2024
Defective ribosome assembly in Shwachman-Diamond syndrome.
Wong CC et al.
Blood, 2011
Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.
Yamaguchi M et al.
International Journal of Hematology, 2011
Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein.
Ng CL et al.
Bmc Structural Biology, 2009
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.
Shammas C et al.
The Journal of Biological Chemistry, 2005
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